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RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Abstract：

:Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Baglietto MG,Caridi G,Gimelli G,Mancardi M,Prato G,Ronchetto P,Cuoco C,Tassano E

doi

10.1016/j.ejmg.2013.12.001

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

44-6

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00258-9

journal_volume

57

pub_type

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